1. Gene
  2. UBXN1 - UBX domain protein 1 Gene

UBXN1 - UBX domain protein 1 Gene

Homo sapiens

Also known as 2B28; SAKS1; UBXD10

Gene ID: 51035 | Gene type: protein coding

About UBXN1

Cytogenetic location: 11q12.3 Genomic coordinates (GRCh38): 11:62,676,500-62,679,073 (from NCBI)

This gene has 18 transcripts (splice variants), 197 orthologues and 5 paralogues. Ubiquitous expression in ovary (RPKM 47.6), fat (RPKM 40.5) and 25 other tissues.

Summary

Enables several functions, including Enzyme binding activity; polyubiquitin modification-dependent protein binding activity; and Proteasome regulatory particle binding activity. Involved in negative regulation of cellular protein metabolic process. Located in cytosol; endoplasmic reticulum; and nucleoplasm. Part of VCP-NPL4-UFD1 AAA ATPase complex. [provided by Alliance of Genome Resources, Apr 2022]

UBXN1 Products(3)

mRNA Protein Name
NM_001286077.2 NP_001273006.1 UBX domain-containing protein 1 isoform 2
NM_001286078.2 NP_001273007.1 UBX domain-containing protein 1 isoform 3
NM_015853.5 NP_056937.2 UBX domain-containing protein 1 isoform 1

UBXN1 Protein Structure

UBA

UBA: UBA/TS-N domain (6 - 39)

UBX

UBX: UBX domain (209 - 292)

  • 0
  • 100
  • 200
  • 297 a.a.
Protein Preferred Names Protein Names

UBX domain-containing protein 1

SAPK substrate protein 1

Related Diseases

Diseases Alias
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia

Ibmpfd

Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia

Pagetoid Amyotrophic Lateral Sclerosis

Pagetoid Neuroskeletal Syndrome

Inclusion Body Myopathy With Paget Disease Of Bone And/Or Frontotemporal Dementia

Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone And/Or Frontotemporal Dementia

Multisystem Proteinopathy

Limb-Girdle Muscular Dystrophy With Paget Disease Of Bone

Inclusion Body Myopathy With Paget'S Disease Of Bone And Frontotemporal Dementia

Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dement

Lower Motor Neuron Degeneration With Paget-Like Bone Disease

Muscular Dystrophy, Limb-Girdle, With Paget Disease Of Bone

Myopathy, Inclusion Body, With Early-Onset Paget Disease And Frontotemporal Dementia

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus UBXN1 MGD MGI:1289301
Bos taurus UBXN1 VGNC VGNC:36622
Rattus norvegicus UBXN1 RGD RGD:1309471
Canis familiaris UBXN1 VGNC VGNC:48095
Macaca mulatta UBXN1 VGNC VGNC:79135
Felis catus UBXN1 VGNC VGNC:66790